Prenatal diagnosis by chromosomal microarray analysis.
Prenatal diagnosis by chromosomal microarray analysis.
复制标题
DOI：
10.1016/j.fertnstert.2018.01.005
复制
发表时间：
2018-03
影响因子：
6.7
通讯作者：
Wapner R
中科院分区：
文献类型：
--
作者：
Levy B;Wapner R
染色体微阵列分析（CMA）通过阵列比较基因组杂交（aCGH）或通过使用SNP阵列进行。在产前环境中，CMA与传统核型分析在检测主要染色体不平衡（如非整倍体和不平衡重排）方面不相上下。CMA通过揭示亚显微镜下的不平衡或拷贝数变化（CNVs）提供了额外的诊断益处，这些变化太小而无法在标准G带染色体制备物上看到。这些亚微观失衡也被称为微缺失和微重复，特别是当它们包括与临床后遗症相关的特定基因组区域时。并非所有的微缺失/重复都与不良临床表型相关，在许多情况下，它们的存在是良性的。在其他情况下，它们与可能从良性到严重的一系列临床表型相关，而在某些情况下，临床意义可能只是未知的。这些情况对产前诊断和产前遗传咨询提出了挑战，CMA极大地促进了复杂结果的交付。在具有正常核型的产前诊断样本中，染色体微阵列将在约1%的结构正常妊娠和6%的结构异常妊娠中诊断出具有临床意义的亚染色体缺失或重复。产前咨询也是必要的，以区分CMA的好处，局限性和诊断范围与强大的，但有限的筛选性质的非侵入性产前诊断使用无细胞胎儿DNA之间的主要差异。
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization (aCGH) or by using a SNP array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number changes (CNVs) that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae. Not all microdeletions/duplications are associated with adverse clinical phenotypes and in many cases, their presence is benign. In other cases, they are associated with a spectrum of clinical phenotypes that may range from benign to severe, while in some situations, the clinical significance may simply be unknown. These scenarios present a challenge for prenatal diagnosis and genetic counseling prior to prenatal CMA greatly facilitates delivery of complex results. In prenatal diagnostic samples with a normal karyotype, chromosomal microarray will diagnose a clinically significant subchromosomal deletion or duplication in approximately 1% of structurally normal pregnancies and 6% with a structural anomaly. Pre-test counseling is also necessary to distinguish the primary differences between the benefits, limitations and diagnostic scope of CMA versus the powerful but limited screening nature of non-invasive prenatal diagnosis using cell-free fetal DNA.
登录
查看更多内容
影响因子：
3
作者：
Bayefsky, Michelle J.;White, Amina;Berkman, Benjamin E.
通讯作者：
Berkman, Benjamin E.
影响因子：
2
作者：
Bornstein, Eran;Berger, Sharon;Divon, Michael Y.
通讯作者：
Divon, Michael Y.
影响因子：
158.5
作者：
Bianchi, Diana W.;Parker, R. Lamar;Sehnert, Amy J.
通讯作者：
Sehnert, Amy J.
影响因子：
3
作者：
Callaway, Jonathan L. A.;Shaffer, Lisa G.;Chitty, Lyn S.;Rosenfeld, Jill A.;Crolla, John A.
通讯作者：
Crolla, John A.
影响因子：
3
作者：
Chan, Yiu Man;Leung, Wing Cheong;Sahota, Daljit Singh
通讯作者：
Sahota, Daljit Singh